UniProtKB/Swiss-Prot Q99835: Variant p.Arg562Gln

Protein smoothened
Gene: SMO
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Variant information Variant position:

562 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Glutamine (Q) at position 562 (R562Q, p.Arg562Gln). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Variant description:

In basal cell carcinoma samples; somatic mutation. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs121918348 [ dbSNP | Ensembl ]

Sequence information Variant position:

562 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

787 The length of the canonical sequence.
Location on the sequence:

LLIWRRTWCRLTGQSDDEPK R IKKSKMIAKAFSKRHELLQN The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         LLIWRRTWCRLTGQSDDEPKRIKKSKMIAKAFSKRHELLQN

Mouse                         LLIWRRTWCRLTGHSDDEPKRIKKSKMIAKAFSKRRELLQN

Rat                           LLIWRRTWCRLTGHSDDEPKRIKKSKMIAKAFSKRRELLQN

Zebrafish                     ILIWKRTWFRIIGRSDDEPKRIKKSKMIAKAFSKRKELQKD

Drosophila                    IETWKRYIRKKCGKEVVEEVKMPKHKVIAQTWAKRKDF-ED

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	28 – 787	Protein smoothened
Topological domain	546 – 787	Cytoplasmic
Region	538 – 569	Interaction with BBS5 and BBS7
Modified residue	556 – 556	Phosphoserine
Modified residue	574 – 574	Phosphoserine

Literature citations
Activating Smoothened mutations in sporadic basal-cell carcinoma.
Xie J.; Murone M.; Luoh S.-M.; Ryan A.; Gu Q.; Zhang C.; Bonifas J.M.; Lam C.-W.; Hynes M.; Goddard A.; Rosenthal A.; Epstein E.H. Jr.; de Sauvage F.J.;
Nature 391:90-92(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-535 AND GLN-562;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.